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FLASH GENE
Symbol ZBTB18 contributors: mct - updated : 14-01-2015
HGNC name zinc finger and BTB domain containing 18
HGNC id 13030
Corresponding disease
DEL1Q44 chromosome 1q44 microdeletion syndrome
Location 1q44      Physical location : -
Synonym name
  • 58 kDa repressor protein
  • translin-associated zinc finger protein 1
  • zinc finger and BTB domain-containing protein 18
  • zinc finger protein C2H2-171
  • zinc finger protein 238
  • Synonym symbol(s) RP58, TAZ-1, C2H2-171, ZNF238, MRD22
    DNA
    TYPE functioning gene
    STRUCTURE 8.54 kb     2 Exon(s)
    regulatory sequence Promoter
    text structure
  • ZBTB18 gene promoter is activated prominently in multipolar migrating cells
  • MAPPING cloned Y linked   status provisional
    Map cen - D1S2693 - ADSS - ZNF238 - D1S423 - qter
    Authors Gene Map (98)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 3922 - 531 - Gregory
    1 - 4319 58.3 522 - Gregory
    2 - 3791 - 522 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveintestinesmall intestine  highly
    Nervousbrainforebraincerebral cortex highly Mus musculusFetal
     brainhindbraincerebellum highly Homo sapiens
     braindiencephalonamygdala   Mus musculusFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a BTB/POZ zinc finger N terminal domain
  • four zinc finger-like domains at the C terminus
  • conjugated MetalloP
    HOMOLOGY
    interspecies homolog to murine Znf238
    Homologene
    FAMILY zinc finger protein family, C2H2 type
    CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • playing a role in transcriptional repression in the central nervous system
  • may play an important role in brain development and function
  • potentially controls cell division of progenitor cells and regulates the survival of postmitotic cortical neurons
  • is expressed in postmitotic brain cells and inhibits brain tumor growth
  • is involved in control of neuronal progenitor cells and survival of cortical neurons, and is implicated with CEP170 as novel genes causative for corpus callosal abnormalities in patients with a terminal 1q deletion
  • may act to favor neuronal differentiation and brain growth by coherently repressing multiple proneurogenic genes in a timely manner
  • key regulator that controls the self-renewal and differentiation of neural stem cells (NSCs) and restriction of astrogenesis by repressing ID1, ID2, ID3, ID4 genes during corticogenesis
  • is essential for the growth and organization of the cerebellum and regulates the development of both GABAergic and glutamatergic neurons
  • key regulator of neuronal migration via multipolar-to-bipolar transition
  • functions in cell-autonomous multipolar-to-bipolar transition, independent of cell-cycle exit
  • is a key player in the transcriptional control of cell migration in the developing cerebral cortex
  • CELLULAR PROCESS cell life
    nucleotide, transcription, regulation
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
    Zn2+
    protein
  • recruiting DNMT3A to HDAC1 to silence transcription
  • NEUROG2 is a direct upstream activator of ZBTB18 expression
  • ZBTB18 represses NEUROG2 transcription to regulate the NEUROG2-RND2 pathway
  • negative regulation of RND2 by ZNF238 was important for cortical cell migration
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL1Q44
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    neural-specific deletion of the BTB/POZ zinc-finger transcription factor-encoding gene ZBTB18 causes severe cerebellar hypoplasia and developmental failure of Purkinje neurons, Bergmann glia and granule neurons
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Rp58 knockout (KO) mice demonstrated enhanced astrogenesis accompanied with an excess of neural stem cells (NSCs)
  • mice with loss of Rp58 die at birth with neocortical defects